Canonical Allele Identifier: CA2580082179

Linked Data

ClinVar Variation Id: 1768384
ClinVar RCV Id: RCV002387292

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.87863485C>T , CM000672.2:g.87863485C>T GRCh38
NC_000010.10:g.89623242C>T , CM000672.1:g.89623242C>T GRCh37
NC_000010.9:g.89613222C>T NCBI36
NG_007466.2:g.5048C>T , LRG_311:g.5048C>T
NG_033079.1:g.4953G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000706954.1:c.-17+843C>T (PTEN) ENSP00000516674.1:n.-17+843C>T
ENST00000688308.1:c.-17+372C>T (PTEN) ENSP00000508752.1:n.-17+372C>T
ENST00000693560.1:c.-465C>T (PTEN) ENSP00000509861.1:n.-465C>T
ENST00000445946.5:c.-998G>A (KLLN) MANE Select ENSP00000392204.2:n.-998G>A
ENST00000371953.7:c.-985C>T (PTEN) ENSP00000361021.3:n.-985C>T
ENST00000610634.1:c.-1087C>T (PTEN) ENSP00000477517.1:n.-1087C>T
NM_000314.5:c.-984C>T (PTEN) NP_000305.3:n.-984C>T
NM_000314.6:c.-984C>T (PTEN) NP_000305.3:n.-984C>T
NM_001304717.2:c.-465C>T (PTEN) NP_001291646.2:n.-465C>T
NM_001304718.1:c.-1689C>T (PTEN) NP_001291647.1:n.-1689C>T
NM_001126049.2:c.-998G>A (KLLN) MANE Select NP_001119521.1:n.-998G>A